Study

Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

Study ID Alternative Stable ID Type
EGAS00001004880 Exome Sequencing

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006815
This dataset includes paired WES from bone marrow samples of patients with SDS and paired bone marrow-derived fibroblasts as a germline reference. Some patients have multiple samples collected serially over time. There are 74 BAM files included in this dataset.
AB 5500 Genetic Analyzer,Illumina HiSeq 2500 74

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